-
1Academic Journal
المؤلفون: Jennifer A. Fifita, Sandrine Chan Moi Fat, Emily P. McCann, Kelly L. Williams, Natalie A. Twine, Denis C. Bauer, Dominic B. Rowe, Roger Pamphlett, Matthew C. Kiernan, Vanessa X. Tan, Ian P. Blair, Gilles J. Guillemin
المصدر: Frontiers in Immunology, Vol 12 (2021)
مصطلحات موضوعية: sporadic amyotrophic lateral sclerosis (SALS), whole-genome sequence (WGS), tryptophan, kynurenine pathway (KP), serotonin, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
-
2Academic Journal
المؤلفون: Beben Benyamin, Ji He, Qiongyi Zhao, Jacob Gratten, Fleur Garton, Paul J. Leo, Zhijun Liu, Marie Mangelsdorf, Ammar Al-Chalabi, Lisa Anderson, Timothy J. Butler, Lu Chen, Xiang-Ding Chen, Katie Cremin, Hong-Weng Deng, Matthew Devine, Janette Edson, Jennifer A. Fifita, Sarah Furlong, Ying-Ying Han, Jessica Harris, Anjali K. Henders, Rosalind L. Jeffree, Zi-Bing Jin, Zhongshan Li, Ting Li, Mengmeng Li, Yong Lin, Xiaolu Liu, Mhairi Marshall, Emily P. McCann, Bryan J. Mowry, Shyuan T. Ngo, Roger Pamphlett, Shu Ran, David C. Reutens, Dominic B. Rowe, Perminder Sachdev, Sonia Shah, Sharon Song, Li-Jun Tan, Lu Tang, Leonard H. van den Berg, Wouter van Rheenen, Jan H. Veldink, Robyn H. Wallace, Lawrie Wheeler, Kelly L. Williams, Jinyu Wu, Xin Wu, Jian Yang, Weihua Yue, Zong-Hong Zhang, Dai Zhang, Peter G. Noakes, Ian P. Blair, Robert D. Henderson, Pamela A. McCombe, Peter M. Visscher, Huji Xu, Perry F. Bartlett, Matthew A. Brown, Naomi R. Wray, Dongsheng Fan
المصدر: Nature Communications, Vol 8, Iss 1, Pp 1-7 (2017)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
-
3Academic Journal
المؤلفون: Kelly L. Williams, Simon Topp, Shu Yang, Bradley Smith, Jennifer A. Fifita, Sadaf T. Warraich, Katharine Y. Zhang, Natalie Farrawell, Caroline Vance, Xun Hu, Alessandra Chesi, Claire S. Leblond, Albert Lee, Stephanie L. Rayner, Vinod Sundaramoorthy, Carol Dobson-Stone, Mark P. Molloy, Marka van Blitterswijk, Dennis W. Dickson, Ronald C. Petersen, Neill R. Graff-Radford, Bradley F. Boeve, Melissa E. Murray, Cyril Pottier, Emily Don, Claire Winnick, Emily P. McCann, Alison Hogan, Hussein Daoud, Annie Levert, Patrick A. Dion, Jun Mitsui, Hiroyuki Ishiura, Yuji Takahashi, Jun Goto, Jason Kost, Cinzia Gellera, Athina Soragia Gkazi, Jack Miller, Joanne Stockton, William S. Brooks, Karyn Boundy, Meraida Polak, José Luis Muñoz-Blanco, Jesús Esteban-Pérez, Alberto Rábano, Orla Hardiman, Karen E. Morrison, Nicola Ticozzi, Vincenzo Silani, Jacqueline de Belleroche, Jonathan D. Glass, John B. J. Kwok, Gilles J. Guillemin, Roger S. Chung, Shoji Tsuji, Robert H. Brown, Alberto García-Redondo, Rosa Rademakers, John E. Landers, Aaron D. Gitler, Guy A. Rouleau, Nicholas J. Cole, Justin J. Yerbury, Julie D. Atkin, Christopher E. Shaw, Garth A. Nicholson, Ian P. Blair
المصدر: Nature Communications, Vol 7, Iss 1, Pp 1-8 (2016)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
-
4Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia
المؤلفون: Lyndal Henden, Liam G. Fearnley, Natalie Grima, Emily P. McCann, Carol Dobson-Stone, Lauren Fitzpatrick, Kathryn Friend, Lynne Hobson, Sandrine Chan Moi Fat, Dominic B. Rowe, Susan D’Silva, John B. Kwok, Glenda M. Halliday, Matthew C. Kiernan, Srestha Mazumder, Hannah C. Timmins, Margaret Zoing, Roger Pamphlett, Lorel Adams, Melanie Bahlo, Ian P. Blair, Kelly L. Williams
المصدر: Science Advances. 9
مصطلحات موضوعية: Multidisciplinary
-
5
المؤلفون: Kelly L. Williams, Dominic B. Rowe, Natalie Grima, Sandrine Chan Moi Fat, Natalie A. Twine, Roger Pamphlett, Matthew C. Kiernan, Denis C. Bauer, Ian P. Blair, Lyndal Henden, Katharine Y. Zhang, Jennifer A. Fifita, Emily P. McCann
المصدر: Journal of Medical Genetics. 58:87-95
مصطلحات موضوعية: 0301 basic medicine, Genetics, medicine.medical_specialty, Genetic heterogeneity, Biology, medicine.disease, TARDBP, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, C9orf72, Molecular genetics, Genetic variation, medicine, Amyotrophic lateral sclerosis, Age of onset, Allele, 030217 neurology & neurosurgery, Genetics (clinical)
-
6
المؤلفون: Marianne Hallupp, Colin D. Field, Kelly L. Williams, Emily P. McCann, Garth A. Nicholson, Claire E. Shepherd, John R. Hodges, John Landers, Agnes Luty, William S. Brooks, Thomas Fath, Glenda M. Halliday, Mark F. Bennett, Peter K. Panegyres, Peter R. Schofield, Jennifer A. Fifita, Bradley N. Smith, Ian P. Blair, Janice M. Fullerton, Esmeralda Paric, Neil Rajan, Olivier Piguet, John B.J. Kwok, Jane Hecker, Alex D. Shaw, Cathy L. Short, Melanie Bahlo, Carol Dobson-Stone, Shankaracharya, Audrey Ragagnin, Holly Stefen, Hamideh Shahheydari, Francine Carew-Jones, Elizabeth Thompson, Julie D. Atkin, Zac Chatterton, Peter C. Blumbergs, Simon Topp, Christopher Shaw
المصدر: Brain
مصطلحات موضوعية: 0301 basic medicine, Autophagy, HEK 293 cells, Original Articles, Biology, medicine.disease, 3. Good health, Pathogenesis, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, TANK-binding kinase 1, medicine, Cancer research, Missense mutation, Dementia, Neurology (clinical), Amyotrophic lateral sclerosis, 030217 neurology & neurosurgery, Frontotemporal dementia
-
7
المؤلفون: Denis C. Bauer, Britt A. Berning, Jennifer A. Fifita, Olivier Piguet, Julie D. Atkin, John B.J. Kwok, Adam K. Walker, Sarah E. Freckleton, Alison L. Hogan, Prachi Mehta, Sandrine Chan Moi Fat, Kelly L. Williams, Emily P. McCann, Shu Yang, Dominic B. Rowe, Garth A. Nicholson, Natalie A. Twine, Glenda M. Halliday, Matthew C. Kiernan, Ian P. Blair, Sharlynn Wu, Katharine Y. Zhang, Cyril J. Jagaraj, John R. Hodges, Jasmin Galper, Lyndal Henden, Natalie Grima
المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 91:162-171
مصطلحات موضوعية: Male, Genetically modified mouse, Pathology, medicine.medical_specialty, Blotting, Western, Fluorescent Antibody Technique, Neurogenetics, Mice, Transgenic, Neuropathology, Gene mutation, Mitochondrial Proteins, Pathogenesis, Mice, 03 medical and health sciences, 0302 clinical medicine, Exome Sequencing, mental disorders, medicine, Animals, Humans, Amyotrophic lateral sclerosis, Aged, 030304 developmental biology, 0303 health sciences, Whole Genome Sequencing, business.industry, Amyotrophic Lateral Sclerosis, Australia, Motor Cortex, Brain, Genetic Variation, nutritional and metabolic diseases, Human brain, Middle Aged, medicine.disease, nervous system diseases, Psychiatry and Mental health, medicine.anatomical_structure, Spinal Cord, Frontotemporal Dementia, Female, Surgery, Neurology (clinical), business, 030217 neurology & neurosurgery, Frontotemporal dementia
-
8
المؤلفون: Shu Yang, Ian P. Blair, Emily P. McCann, Jasmin Galper, Sharlynn Wu, Sarah E. Freckleton, Fat Scm, Jennifer A. Fifita, Katharine Y. Zhang
المصدر: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 20:135-159
مصطلحات موضوعية: Candidate gene, Wild type, Transfection, Computational biology, Protein degradation, Biology, medicine.disease, Genetic analysis, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Neurology, Mendelian inheritance, symbols, medicine, Neurology (clinical), Amyotrophic lateral sclerosis, Gene, 030217 neurology & neurosurgery
-
9
المؤلفون: Ram Maharjan, Lyndal Henden, Kelly L. Williams, Alison L. Hogan, Benjamin Heng, Ian P. Blair, Sandrine Chan Moi Fat, Ingrid S. Tarr, Natalie Grima, Shu Yang, Katharine Y. Zhang, Amy K. Cain, Qiongyi Zhao, Sharlynn Wu, Marco Morsch, Amanda L. Wright, Jennifer A. Fifita, Albert Lee, Stephanie L. Rayner, Zong-Hong Zhang, Emily P. McCann
المصدر: Neuropathology and applied neurobiologyREFERENCES. 47(7)
مصطلحات موضوعية: Histology, Proline, Glutamine, Pathology and Forensic Medicine, Splicing factor, Ubiquitin, Physiology (medical), medicine, Humans, Amyotrophic lateral sclerosis, Motor Neurons, biology, Binding protein, Amyotrophic Lateral Sclerosis, Intron, RNA, medicine.disease, Introns, Cell biology, Real-time polymerase chain reaction, Neurology, Frontotemporal Dementia, biology.protein, Neurology (clinical), RNA Splicing Factors, Genetic screen
-
10
المؤلفون: Sandrine Chan Moi Fat, Matthew C. Kiernan, Ian P. Blair, Emily P. McCann, Lyndal Henden, Garth A. Nicholson, Kelly L. Williams, Dominic B. Rowe, Jennifer A. Fifita, Denis C. Bauer, Roger Pamphlett, Natalie A. Twine
المصدر: Neurobiology of aging. 101
مصطلحات موضوعية: 0301 basic medicine, Male, Aging, Disease, Biology, Genetic analysis, European descent, White People, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Genetic variation, Exome Sequencing, medicine, Humans, Amyotrophic lateral sclerosis, Gene, Whole genome sequencing, Genetics, Whole Genome Sequencing, General Neuroscience, Amyotrophic Lateral Sclerosis, Australia, Genetic Variation, Glycosyltransferases, medicine.disease, Phosphoproteins, 030104 developmental biology, Cohort, Female, Neurology (clinical), Geriatrics and Gerontology, Negative Results, 030217 neurology & neurosurgery, Developmental Biology, Genome-Wide Association Study
-
11
المؤلفون: Lyndal Henden, Qiongyi Zhao, Benjamin Heng, Ram Maharjan, Shu Yang, Sharlynn Wu, Ian P. Blair, Amy K. Cain, Ingrid S. Tarr, Zong-Hong Zhang, Natalie Grima, Katharine Y. Zang, Emily P. McCann, Kelly L. Williams, Sandrine Chan Moi Fat, Alison L. Hogan, Jennifer A. Fifita, Marco Morsch, Amanda L. Wright
مصطلحات موضوعية: biology, Central nervous system, Intron, Paraspeckle, medicine.disease, Splicing factor, medicine.anatomical_structure, Ubiquitin, Gene expression, biology.protein, medicine, Cancer research, Amyotrophic lateral sclerosis, Genetic screen
-
12
المؤلفون: Lyndal, Henden, Natalie A, Twine, Piotr, Szul, Emily P, McCann, Garth A, Nicholson, Dominic B, Rowe, Matthew C, Kiernan, Denis C, Bauer, Ian P, Blair, Kelly L, Williams
المصدر: NPJ Genomic Medicine
مصطلحات موضوعية: Haplotypes, Mutation, Amyotrophic lateral sclerosis, Article
-
13
المؤلفون: Ian P. Blair, Piotr Szul, Emily P. McCann, Natalie A. Twine, Kelly L. Williams, Lyndal Henden, Denis C. Bauer
مصطلحات موضوعية: Disease gene, 0303 health sciences, User Friendly, Multiple applications, food and beverages, Genome-wide association study, Computational biology, Biology, Pipeline (software), humanities, Sample quality, 03 medical and health sciences, 0302 clinical medicine, Mutation (genetic algorithm), population characteristics, Abstract Summary, 030217 neurology & neurosurgery, geographic locations, 030304 developmental biology
-
14
المؤلفون: Denis C. Bauer, Dominic B. Rowe, Kelly L. Williams, Lyndal Henden, Natalie A. Twine, Emily P. McCann, Garth A. Nicholson, Matthew C. Kiernan, Ian P. Blair, Piotr Szul
مصطلحات موضوعية: Genetics, 0303 health sciences, Mutation, Genetic counseling, Haplotype, Disease, Biology, medicine.disease, medicine.disease_cause, Penetrance, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Paralysis, medicine, medicine.symptom, Amyotrophic lateral sclerosis, Family history, 030217 neurology & neurosurgery, 030304 developmental biology
-
15
المؤلفون: Ingrid S. Tarr, Roger Pamphlett, Shu Yang, Emily P. McCann, Garth A. Nicholson, Jennifer A. Fifita, Dominic B. Rowe, Ian P. Blair, Alison L. Hogan, Denis C. Bauer, Neil F. W. Saunders, Katharine Y. Zhang, Jasmin Galper, Kelly L. Williams
المصدر: Neurodegenerative Diseases. 17:304-312
مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, medicine.medical_specialty, DNA Mutational Analysis, Neurogenetics, Neuropathology, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, C9orf72, Heterogeneous-Nuclear Ribonucleoprotein Group A-B, medicine, Humans, Amyotrophic lateral sclerosis, Motor Neurons, C9orf72 Protein, business.industry, Amyotrophic Lateral Sclerosis, Australia, medicine.disease, Multisystem proteinopathy, 030104 developmental biology, Spinal Cord, Neurology, Case-Control Studies, Female, Neurology (clinical), business, Trinucleotide repeat expansion, 030217 neurology & neurosurgery, Frontotemporal dementia
-
16
المؤلفون: Ingrid S. Tarr, Beben Benyamin, Natalie A. Twine, Denis C. Bauer, Emily P. McCann, Garth A. Nicholson, Qiongyi Zhao, Dominic B. Rowe, Tim J Peters, Ian P. Blair, Susan J. Clark, Kelly L. Williams, Katharine Y. Zhang, Zong Hong Zhang
المساهمون: Tarr, I, McCann, E, Benyamin, B, Peters, T, Twine, N, Zhang, K, Zhao, Q, Zhang, Z, Rowe, D, Nicholson, G, Bauer, D, Clark, S, Blair, I, Williams, K
المصدر: Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-17 (2019)مصطلحات موضوعية: 0301 basic medicine, Adult, Male, SOD1, lcsh:Medicine, Cell Cycle Proteins, Biology, Article, Epigenesis, Genetic, 03 medical and health sciences, 0302 clinical medicine, Gene expression analysis, C9orf72, Exome Sequencing, medicine, Diseases in Twins, Humans, Genetic Predisposition to Disease, Epigenetics, Amyotrophic lateral sclerosis, lcsh:Science, Exome sequencing, Genetic Association Studies, Aged, Genetics, Regulation of gene expression, Multidisciplinary, Triplets, DNA methylation, C9orf72 Protein, lcsh:R, Amyotrophic Lateral Sclerosis, Australia, Methylation, Twins, Monozygotic, Middle Aged, medicine.disease, 3. Good health, 030104 developmental biology, Phenotype, Gene Expression Regulation, Methylation analysis, lcsh:Q, Female, Gene expression, 030217 neurology & neurosurgery
-
17
المؤلفون: Vanessa Tan, Gilles J. Guillemin, Emily P. McCann, Jennifer A. Fifita, Manal A. Farg, Vinod Sundaramoorthy, Kelly L. Williams, Ian P. Blair, Julie D. Atkin, Adam K. Walker
المصدر: Human molecular genetics. 26(17)
مصطلحات موضوعية: 0301 basic medicine, Autophagosome, medicine.medical_specialty, Immunoprecipitation, Mutation, Missense, Cell Cycle Proteins, Biology, 03 medical and health sciences, symbols.namesake, Mice, Molecular genetics, Lysosome, Transcription Factor TFIIIA, Myosin, Genetics, medicine, Animals, Humans, Amyotrophic lateral sclerosis, Eye Proteins, Molecular Biology, Actin, Genetics (clinical), Cells, Cultured, Optineurin, Motor Neurons, Myosin Heavy Chains, Endoplasmic reticulum, Autophagy, Amyotrophic Lateral Sclerosis, Membrane Transport Proteins, General Medicine, Anatomy, Golgi apparatus, medicine.disease, Endoplasmic Reticulum Stress, Molecular biology, Cell biology, Blot, Protein Transport, 030104 developmental biology, medicine.anatomical_structure, Spinal Cord, biology.protein, Unfolded protein response, symbols, Antibody, Protein Binding
-
18
المؤلفون: Kelly L. Williams, Stephen W. Reddel, Katharine Y. Zhang, Daisy Y. Shu, Shannon J. Das, Emily P. McCann, Ian P. Blair, William D. Phillips, Frank J. Lovicu, Archunan Visvanathan, Eva Kichkin
المصدر: Journal of neuromuscular diseases. 4(2)
مصطلحات موضوعية: 0301 basic medicine, Male, Hereditary spastic paraplegia, Transgene, Gene Expression, Mice, Transgenic, Hindlimb, Biology, Motor Endplate, 03 medical and health sciences, 0302 clinical medicine, medicine, Animals, Spectrin, Spasticity, Transgenes, Gene, Body Weight, SPTBN4, Brain, medicine.disease, Phenotype, Molecular biology, Paresis, Mutagenesis, Insertional, 030104 developmental biology, Neurology, Muscle Spasticity, Female, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery
-
19Academic Journal
المؤلفون: Jennifer A Fifita, Kelly L Williams, Vinod Sundaramoorthy, Emily P Mccann, Garth A Nicholson, Julie D Atkin, Ian P Blair
مصطلحات موضوعية: Clinical sciences not elsewhere classified, Neurosciences not elsewhere classified, Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences & Neurology, Optineurin, mutation, exome sequencing, Golgi fragmentation, ONLINE BIOINFORMATICS TOOL, MYOSIN VI, WILD-TYPE, MOTOR-NEURONS, CELL-DEATH, PROTEIN, APPARATUS, DISEASE, ALS, 3209 Neurosciences
Relation: http://hdl.handle.net/10536/DRO/DU:30136684; https://figshare.com/articles/journal_contribution/A_novel_amyotrophic_lateral_sclerosis_mutation_in_OPTN_induces_ER_stress_and_Golgi_fragmentation_in_vitro/20708761
-
20
المؤلفون: Dominic B. Rowe, Ingrid S. Tarr, Kelly L. Williams, Emily P. McCann, Garth A. Nicholson, Ian P. Blair, Jody O'Connor, Jennifer A. Fifita
المصدر: Clinical genetics. 92(3)
مصطلحات موضوعية: 0301 basic medicine, Male, Genotype, Penetrance, Gene mutation, TARDBP, 03 medical and health sciences, 0302 clinical medicine, Superoxide Dismutase-1, Gene Frequency, C9orf72, Exome Sequencing, Genetics, medicine, Humans, Amyotrophic lateral sclerosis, Age of Onset, Genetics (clinical), Exome sequencing, Alleles, Genetic Association Studies, C9orf72 Protein, business.industry, Amyotrophic Lateral Sclerosis, Australia, Exons, Sequence Analysis, DNA, Middle Aged, medicine.disease, 030104 developmental biology, Phenotype, Mutation, Female, Age of onset, business, Trinucleotide repeat expansion, 030217 neurology & neurosurgery